Canonical Allele Identifier: CA1743704000

Gene: MKLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.131418806C= , CM000669.2:g.131418806C=	GRCh38
NC_000007.13:g.131103565C= , CM000669.1:g.131103565C=	GRCh37
NC_000007.12:g.130754105C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352689.11:c.847+4096C= MANE Select	ENSP00000323527.6:n.847+4096C=
ENST00000352689.10:c.847+4096C=	ENSP00000323527.6:n.847+4096C=
ENST00000421797.6:c.571+4096C=	ENSP00000398094.2:n.571+4096C=
ENST00000458153.5:c.*337+4096C=	ENSP00000407705.1:n.*337+4096C=
ENST00000494785.5:n.864+4096C=
NM_001145354.1:c.778+4096C=	NP_001138826.1:n.778+4096C=
NM_013255.4:c.847+4096C=	NP_037387.2:n.847+4096C=
XM_005250356.1:c.226+4096C=	XP_005250413.1:n.226+4096C=
XM_006715993.1:c.847+4096C=	XP_006716056.1:n.847+4096C=
XM_011516224.1:c.847+4096C=	XP_011514526.1:n.847+4096C=
NM_001321316.1:c.226+4096C=	NP_001308245.1:n.226+4096C=
XM_006715993.3:c.847+4096C=	XP_006716056.1:n.847+4096C=
XM_011516224.3:c.847+4096C=	XP_011514526.1:n.847+4096C=
XM_024446766.1:c.571+4096C=	XP_024302534.1:n.571+4096C=
XM_024446767.1:c.571+4096C=	XP_024302535.1:n.571+4096C=
NM_013255.5:c.847+4096C= MANE Select	NP_037387.2:n.847+4096C=
NM_001145354.2:c.778+4096C=	NP_001138826.1:n.778+4096C=
NM_001321316.2:c.226+4096C=	NP_001308245.1:n.226+4096C=